Canonical Allele Identifier: CA609969223

Gene: ATP7B

Linked Data

• dbSNP Id: rs1344944883
• gnomAD v2: 13-52534837-ACCCCC-A
• gnomAD v3: 13-51960701-ACCCCC-A
• gnomAD v4: 13-51960701-ACCCCC-A
• MyVariant Identifiers: chr13:g.52534838_52534842del (hg19) ; chr13:g.51960702_51960706del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51960702_51960706del , CM000675.2:g.51960702_51960706del	GRCh38
NC_000013.10:g.52534838_52534842del , CM000675.1:g.52534838_52534842del	GRCh37
NC_000013.9:g.51432839_51432843del	NCBI36
NG_008806.1:g.55789_55793del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.1946+1131_1946+1135del	ENSP00000489512.2:n.1946+1131_1946+1135del
ENST00000673864.2:c.*691-384_*691-380del	ENSP00000501045.2:n.*691-384_*691-380del
ENST00000674147.2:c.1870-3099_1870-3095del	ENSP00000500964.2:n.1870-3099_1870-3095del
ENST00000242839.10:c.1947-384_1947-380del MANE Select	ENSP00000242839.5:n.1947-384_1947-380del
ENST00000344297.9:c.1870-3099_1870-3095del	ENSP00000342559.5:n.1870-3099_1870-3095del
ENST00000400366.6:c.1614-384_1614-380del	ENSP00000383217.3:n.1614-384_1614-380del
ENST00000448424.7:c.1870-2162_1870-2158del	ENSP00000416738.3:n.1870-2162_1870-2158del
ENST00000673772.1:c.1947-384_1947-380del	ENSP00000501168.1:n.1947-384_1947-380del
ENST00000674147.1:c.1426-3099_1426-3095del	ENSP00000500964.1:n.1426-3099_1426-3095del
ENST00000242839.8:c.1947-384_1947-380del	ENSP00000242839.4:n.1947-384_1947-380del
ENST00000344297.8:c.1870-3099_1870-3095del	ENSP00000342559.5:n.1870-3099_1870-3095del
ENST00000400366.5:c.1614-384_1614-380del	ENSP00000383217.3:n.1614-384_1614-380del
ENST00000400370.8:c.1286-10545_1286-10541del	ENSP00000383221.3:n.1286-10545_1286-10541del
ENST00000418097.7:c.1947-384_1947-380del	ENSP00000393343.2:n.1947-384_1947-380del
ENST00000448424.6:c.1947-384_1947-380del	ENSP00000416738.2:n.1947-384_1947-380del
ENST00000482841.6:n.1665-2162_1665-2158del
ENST00000634296.1:c.82+1131_82+1135del
ENST00000634308.1:c.1947-384_1947-380del	ENSP00000489234.1:n.1947-384_1947-380del
ENST00000634620.1:n.439-384_439-380del
ENST00000634844.1:c.1947-384_1947-380del	ENSP00000489398.1:n.1947-384_1947-380del
ENST00000635406.1:n.212-14228_212-14224del
NM_000053.3:c.1947-384_1947-380del	NP_000044.2:n.1947-384_1947-380del
NM_001005918.2:c.1870-3099_1870-3095del	NP_001005918.1:n.1870-3099_1870-3095del
NM_001243182.1:c.1614-384_1614-380del	NP_001230111.1:n.1614-384_1614-380del
XM_005266423.2:c.1851-384_1851-380del	XP_005266480.1:n.1851-384_1851-380del
XM_005266424.3:c.1851-384_1851-380del	XP_005266481.1:n.1851-384_1851-380del
XM_005266427.2:c.1947-384_1947-380del	XP_005266484.1:n.1947-384_1947-380del
XM_005266428.1:c.1870-2162_1870-2158del	XP_005266485.1:n.1870-2162_1870-2158del
XM_005266430.3:c.1947-384_1947-380del	XP_005266487.1:n.1947-384_1947-380del
XM_005266431.2:c.1911-384_1911-380del	XP_005266488.1:n.1911-384_1911-380del
XM_005266432.2:c.1870-3099_1870-3095del	XP_005266489.1:n.1870-3099_1870-3095del
XM_006719837.2:c.1851-384_1851-380del	XP_006719900.1:n.1851-384_1851-380del
XM_006719838.1:c.-64+1131_-64+1135del	XP_006719901.1:n.-64+1131_-64+1135del
XM_006719839.1:c.-64+1131_-64+1135del	XP_006719902.1:n.-64+1131_-64+1135del
XM_011535117.1:c.1851-384_1851-380del	XP_011533419.1:n.1851-384_1851-380del
XM_011535118.1:c.1947-384_1947-380del	XP_011533420.1:n.1947-384_1947-380del
XM_011535119.1:c.1947-384_1947-380del	XP_011533421.1:n.1947-384_1947-380del
XM_011535120.1:c.1708-2162_1708-2158del	XP_011533422.1:n.1708-2162_1708-2158del
XM_011535121.1:c.1947-384_1947-380del	XP_011533423.1:n.1947-384_1947-380del
XM_011535122.1:c.615-384_615-380del	XP_011533424.1:n.615-384_615-380del
XR_941601.1:n.2166-384_2166-380del
XR_941602.1:n.2166-384_2166-380del
XR_941603.1:n.2166-384_2166-380del
XR_941604.1:n.2166-384_2166-380del
NM_001330578.1:c.1947-384_1947-380del	NP_001317507.1:n.1947-384_1947-380del
NM_001330579.1:c.1870-2162_1870-2158del	NP_001317508.1:n.1870-2162_1870-2158del
XM_005266424.4:c.1851-384_1851-380del	XP_005266481.1:n.1851-384_1851-380del
XM_005266430.4:c.1947-384_1947-380del	XP_005266487.1:n.1947-384_1947-380del
XM_005266431.4:c.1911-384_1911-380del	XP_005266488.1:n.1911-384_1911-380del
XM_006719837.3:c.1851-384_1851-380del	XP_006719900.1:n.1851-384_1851-380del
XM_011535117.3:c.1851-384_1851-380del	XP_011533419.1:n.1851-384_1851-380del
XM_017020627.1:c.1851-384_1851-380del	XP_016876116.1:n.1851-384_1851-380del
NM_000053.4:c.1947-384_1947-380del MANE Select	NP_000044.2:n.1947-384_1947-380del
NM_001005918.3:c.1870-3099_1870-3095del	NP_001005918.1:n.1870-3099_1870-3095del
NM_001330579.2:c.1870-2162_1870-2158del	NP_001317508.1:n.1870-2162_1870-2158del
NM_001243182.2:c.1614-384_1614-380del	NP_001230111.1:n.1614-384_1614-380del
NM_001330578.2:c.1947-384_1947-380del	NP_001317507.1:n.1947-384_1947-380del